K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity
about
Why Is there a Limit to the Changes in Myofilament Ca2+-Sensitivity Associated with Myopathy Causing Mutations?Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focusMutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathiesMutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patientsPreparing monodisperse macromolecular samples for successful biological small-angle X-ray and neutron-scattering experiments.PLIN5 deletion remodels intracellular lipid composition and causes insulin resistance in muscle.Clinical utility gene card for: Nemaline myopathy - update 2015.Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.Perm1 enhances mitochondrial biogenesis, oxidative capacity, and fatigue resistance in adult skeletal muscle.Mutation-specific effects on thin filament length in thin filament myopathy.TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.Polymorphism in tropomyosin structure and function.Sarcomere Dysfunction in Nemaline Myopathy.Amino Acid Changes at Arginine 204 of Troponin I Result in Increased Calcium Sensitivity of Force Development.Skeletal muscle myopathy mutations at the actin tropomyosin interface that cause gain- or loss-of-function.Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).
P2860
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P2860
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity
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2013 nî lūn-bûn
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2013 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2013年の論文
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2013年論文
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2013年論文
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2013年論文
@zh-hk
2013年論文
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2013年論文
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2013年论文
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K7del is a common TPM2 gene mu ...... d myofibre calcium sensitivity
@ast
K7del is a common TPM2 gene mu ...... d myofibre calcium sensitivity
@en
K7del is a common TPM2 gene mu ...... d myofibre calcium sensitivity
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label
K7del is a common TPM2 gene mu ...... d myofibre calcium sensitivity
@ast
K7del is a common TPM2 gene mu ...... d myofibre calcium sensitivity
@en
K7del is a common TPM2 gene mu ...... d myofibre calcium sensitivity
@nl
prefLabel
K7del is a common TPM2 gene mu ...... d myofibre calcium sensitivity
@ast
K7del is a common TPM2 gene mu ...... d myofibre calcium sensitivity
@en
K7del is a common TPM2 gene mu ...... d myofibre calcium sensitivity
@nl
P2093
P50
P3181
P356
P1433
P1476
K7del is a common TPM2 gene mu ...... d myofibre calcium sensitivity
@en
P2093
Andoni Echaniz-Laguna
Biljana Ilkovski
Carina Wallgren-Pettersson
Coen Ottenheijm
Cy M Jeffries
Dominique Menard
Elina Lemola
Elyshia McNamara
Gianina Ravenscroft
Jens Reimann
P304
P3181
P356
10.1093/BRAIN/AWS348
P407
P50
P577
2013-02-01T00:00:00Z